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fibrosis of extraocular muscles, congenital, 3c - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

fibrosis of extraocular muscles, congenital, 3c

MONDO:0012262

Also known as:CFEOM3CFeom4 locus

Overview

GeneticsAutosomal dominant

ResearchLimited published research (6 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Highly arched eyebrow, Congenital fibrosis of extraocular muscles, Excessive outward curvature of the upper spine (kyphosis), and Underdeveloped supraorbital ridges and 5 more.

Organ System	Phenotype Count	Example Features
Pregnancy and birth	2	Congenital fibrosis of extraocular muscles, Congenital bilateral ptosis

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for fibrosis of extraocular muscles, congenital, 3c.

6 publications have been identified in PubMed for fibrosis of extraocular muscles, congenital, 3c. Research spans Epidemiology / Natural History (50%), Basic Science / Preclinical (33%), and Gene Therapy / Novel Therapeutics (17%).

Recent Publications

Pradhan S (2025). [PMID: 40681476](https://pubmed.ncbi.nlm.nih.gov/40681476/). *Clinical and translational medicine*. [Epidemiology / Natural History]
Peng Z (2025). [PMID: 40018034](https://pubmed.ncbi.nlm.nih.gov/40018034/). *Frontiers in immunology*. [Basic Science / Preclinical]
Webb BD (2025). [PMID: 40662098](https://pubmed.ncbi.nlm.nih.gov/40662098/). *Genetics in medicine open*. [Epidemiology / Natural History]
Jurgens JA (2024). [PMID: 38585811](https://pubmed.ncbi.nlm.nih.gov/38585811/). *medRxiv : the preprint server for health sciences*. [Epidemiology / Natural History]
Norman O (2024). [PMID: 38564194](https://pubmed.ncbi.nlm.nih.gov/38564194/). *Investigative ophthalmology & visual science*. [Basic Science / Preclinical]

Data assembled from 4 of 12 sources · Last updated Sep 17, 2026, 10:13 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609384

GARD

Genetic and Rare Diseases Info Center

GARD:15459

Questions for Your Care Team

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fibrosis of extraocular muscles, congenital, 3c

Overview

Clinical Presentation

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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